LMPD Database

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LMP002550

Record overview

LMPD IDLMP002550
Gene ID51004
SpeciesHomo sapiens (Human)
Gene Namecoenzyme Q6 monooxygenase
Gene SymbolCOQ6
SynonymsCGI10; COQ10D6
Alternate namesubiquinone biosynthesis monooxygenase COQ6; coenzyme Q10 monooxygenase 6; coenzyme Q6 homolog, monooxygenase
Chromosome14
Map Location14q24.3
EC Number1.14.13.-
SummaryThe protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2012]
OrthologsView orthologs and multiple alignments for COQ6

Proteins

ubiquinone biosynthesis monooxygenase COQ6 isoform a
Refseq ID:NP_872282
Protein GI:32967305
UniProt ID:Q9Y2Z9
mRNA ID:NM_182476
Length:468
RefSeq Status:REVIEWED
MAARLVSRCGAVRAAPHSGPLVSWRRWSGASTDTVYDVVVSGGGLVGAAMACALGYDIHFHDKKILLLEAGPKKVLEKLSETYSNRVSSISPGSATLLSS
FGAWDHICNMRYRAFRRMQVWDACSEALIMFDKDNLDDMGYIVENDVIMHALTKQLEAVSDRVTVLYRSKAIRYTWPCPFPMADSSPWVHITLGDGSTFQ
TKLLIGADGHNSGVRQAVGIQNVSWNYDQSAVVATLHLSEATENNVAWQRFLPSGPIALLPLSDTLSSLVWSTSHEHAAELVSMDEEKFVDAVNSAFWSD
ADHTDFIDTAGAMLQYAVSLLKPTKVSARQLPPSVARVDAKSRVLFPLGLGHAAEYVRPRVALIGDAAHRVHPLAGQGVNMGFGDISSLAHHLSTAAFNG
KDLGSVSHLTGYETERQRHNTALLAATDLLKRLYSTSASPLVLLRTWGLQATNAVSPLKEQIMAFASK
 
ubiquinone biosynthesis monooxygenase COQ6 isoform b
Refseq ID:NP_872286
Protein GI:341926262
UniProt ID:Q9Y2Z9
mRNA ID:NM_182480
Length:443
RefSeq Status:REVIEWED
MRGQGPPLSSFGVWLASRAASDPSRPRRQGYDIHFHDKKILLLEAGPKKVLEKLSETYSNRVSSISPGSATLLSSFGAWDHICNMRYRAFRRMQVWDACS
EALIMFDKDNLDDMGYIVENDVIMHALTKQLEAVSDRVTVLYRSKAIRYTWPCPFPMADSSPWVHITLGDGSTFQTKLLIGADGHNSGVRQAVGIQNVSW
NYDQSAVVATLHLSEATENNVAWQRFLPSGPIALLPLSDTLSSLVWSTSHEHAAELVSMDEEKFVDAVNSAFWSDADHTDFIDTAGAMLQYAVSLLKPTK
VSARQLPPSVARVDAKSRVLFPLGLGHAAEYVRPRVALIGDAAHRVHPLAGQGVNMGFGDISSLAHHLSTAAFNGKDLGSVSHLTGYETERQRHNTALLA
ATDLLKRLYSTSASPLVLLRTWGLQATNAVSPLKEQIMAFASK